chr19:39253181:G>A Detail (hg38)

Information

Genome

Assembly Position
hg19 chr19:39,743,821-39,743,821 View the variant detail on this assembly version.
hg38 chr19:39,253,181-39,253,181

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.101
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.220 hepatitis C To estimate the impact of interleukin 28B (IL28B) polymorphisms (rs12980275, rs8... BeFree 23135173 Detail
0.033 HIV Infections The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs72486... BeFree 23103287 Detail
Annotation

Annotations

DescrptionSourceLinks
To estimate the impact of interleukin 28B (IL28B) polymorphisms (rs12980275, rs8099917, rs7248668, a... DisGeNET Detail
The major alleles of IL28B (rs12980275 A, rs11881222 A, rs8099917 T, and rs7248668 G) are associated... DisGeNET Detail
Gene
-
dbSNP
rs7248668 dbSNP
Genome
hg38
Position
chr19:39,253,181-39,253,181
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs7248668
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1015
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1701
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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